Canonical Allele Identifier: CA393753052

Gene: POLG

Linked Data

• dbSNP Id: rs1165014789
• gnomAD v2: 15-89864176-C-G
• MyVariant Identifiers: chr15:g.89864176C>G (hg19) ; chr15:g.89320945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320945C>G , CM000677.2:g.89320945C>G	GRCh38
NC_000015.9:g.89864176C>G , CM000677.1:g.89864176C>G	GRCh37
NC_000015.8:g.87665180C>G	NCBI36
NG_008218.1:g.18851G>C
NG_008218.2:g.18851G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2802G>C	ENSP00000516154.1:p.Lys934Asn
ENST00000268124.11:c.2802G>C MANE Select	ENSP00000268124.5:p.Lys934Asn
ENST00000530292.3:c.2403G>C	ENSP00000432885.2:p.Lys801Asn
ENST00000635986.2:c.2802G>C	ENSP00000490653.2:p.Lys934Asn
ENST00000636774.1:c.*1369G>C	ENSP00000489799.1:n.*1369G>C
ENST00000637238.1:c.1611G>C	ENSP00000490756.1:n.1611G>C
ENST00000637264.1:c.1874G>C
ENST00000666746.1:c.2379G>C
ENST00000670281.1:c.800+1017G>C	ENSP00000499709.1:n.800+1017G>C
ENST00000672071.1:n.3000G>C
ENST00000672923.2:n.2744G>C
ENST00000268124.9:c.2802G>C	ENSP00000268124.5:p.Lys934Asn
ENST00000442287.6:c.2802G>C	ENSP00000399851.2:p.Lys934Asn
ENST00000528881.2:c.399G>C
ENST00000530715.5:c.186-76G>C	ENSP00000431395.1:n.186-76G>C
ENST00000631044.2:c.*2226G>C	ENSP00000486730.1:n.*2226G>C
NM_001126131.1:c.2802G>C	NP_001119603.1:p.Lys934Asn
NM_002693.2:c.2802G>C	NP_002684.1:p.Lys934Asn
NM_001126131.2:c.2802G>C	NP_001119603.1:p.Lys934Asn
NM_002693.3:c.2802G>C MANE Select	NP_002684.1:p.Lys934Asn